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Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.
Wenderski W, Wang L, Krokhotin A, Walsh JJ, Li H, Shoji H, Ghosh S, George RD, Miller EL, Elias L, Gillespie MA, Son EY, Staahl BT, Baek ST, Stanley V, Moncada C, Shipony Z, Linker SB, Marchetto MCN, Gage FH, Chen D, Sultan T, Zaki MS, Ranish JA, Miyakawa T, Luo L, Malenka RC, Crabtree GR, Gleeson JG. Wenderski W, et al. Among authors: zaki ms. Proc Natl Acad Sci U S A. 2020 May 5;117(18):10055-10066. doi: 10.1073/pnas.1908238117. Epub 2020 Apr 20. Proc Natl Acad Sci U S A. 2020. PMID: 32312822 Free PMC article.
Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families.
Hanna RM, Marsh SE, Swistun D, Al-Gazali L, Zaki MS, Abdel-Salam GM, Al-Tawari A, Bastaki L, Kayserili H, Rajab A, Boglárka B, Dietrich RB, Dobyns WB, Truwit CL, Sattar S, Chuang NA, Sherr EH, Gleeson JG. Hanna RM, et al. Among authors: zaki ms. Neurology. 2011 Jan 25;76(4):373-82. doi: 10.1212/WNL.0b013e318208f492. Neurology. 2011. PMID: 21263138 Free PMC article.
Exome sequencing can improve diagnosis and alter patient management.
Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, Bielas S, Schaffer AE, Olvera J, Bafna V, Zaki MS, Abdel-Salam GH, Mansour LA, Selim L, Abdel-Hadi S, Marzouki N, Ben-Omran T, Al-Saana NA, Sonmez FM, Celep F, Azam M, Hill KJ, Collazo A, Fenstermaker AG, Novarino G, Akizu N, Garimella KV, Sougnez C, Russ C, Gabriel SB, Gleeson JG. Dixon-Salazar TJ, et al. Among authors: zaki ms. Sci Transl Med. 2012 Jun 13;4(138):138ra78. doi: 10.1126/scitranslmed.3003544. Sci Transl Med. 2012. PMID: 22700954 Free PMC article.
306 results